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Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy
We identified a novel mutation in the tumor-associated calcium signal transducer 2 (TACSTD2) gene in a consanguineous Thai family with gelatinous drop-like corneal dystrophy (GDLD). All affected family members presented with an intense amyloid substance deposited on the cornea, which required surgic...
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| Опубликовано в: : | Hum Genome Var |
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| Главные авторы: | , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Nature Publishing Group
2015
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4785563/ https://ncbi.nlm.nih.gov/pubmed/27081552 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.47 |
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